ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.421G>T (p.Glu141Ter)

dbSNP: rs1469460289
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245546 SCV001418841 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2020-08-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RPE65 are known to be pathogenic (PMID: 9326941, 9501220, 18632300). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with RPE65-related conditions. ClinVar contains an entry for this variant (Variation ID: 970047). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu141*) in the RPE65 gene. It is expected to result in an absent or disrupted protein product.

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